Ring chromosome 10 syndrome

Orpha code: 1438OMIM code:

Definition

An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.

Disease data
Classification

Malformation syndrome

Synonyms
Ring 10
Ring chromosome 10
ORPHA code
1438
OMIM code
-
ICD10 code
Q93.2
ICD11 code
-

No additional description.

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